BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 32576656)

  • 21. Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas.
    Hadfield KD; Smith MJ; Urquhart JE; Wallace AJ; Bowers NL; King AT; Rutherford SA; Trump D; Newman WG; Evans DG
    Oncogene; 2010 Nov; 29(47):6216-21. PubMed ID: 20729918
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Schwannomatosis: the overlooked neurofibromatosis?
    Koontz NA; Wiens AL; Agarwal A; Hingtgen CM; Emerson RE; Mosier KM
    AJR Am J Roentgenol; 2013 Jun; 200(6):W646-53. PubMed ID: 23701098
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
    Pathmanaban ON; Sadler KV; Kamaly-Asl ID; King AT; Rutherford SA; Hammerbeck-Ward C; McCabe MG; Kilday JP; Beetz C; Poplawski NK; Evans DG; Smith MJ
    JAMA Neurol; 2017 Sep; 74(9):1123-1129. PubMed ID: 28759666
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.
    Hadfield KD; Newman WG; Bowers NL; Wallace A; Bolger C; Colley A; McCann E; Trump D; Prescott T; Evans DG
    J Med Genet; 2008 Jun; 45(6):332-9. PubMed ID: 18285426
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.
    Hutter S; Piro RM; Reuss DE; Hovestadt V; Sahm F; Farschtschi S; Kehrer-Sawatzki H; Wolf S; Lichter P; von Deimling A; Schuhmann MU; Pfister SM; Jones DT; Mautner VF
    Acta Neuropathol; 2014 Sep; 128(3):449-52. PubMed ID: 25008767
    [No Abstract]   [Full Text] [Related]  

  • 26. Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas.
    Wu CL; Thakker N; Neary W; Black G; Lye R; Ramsden RT; Read AP; Evans DG
    J Med Genet; 1998 Dec; 35(12):973-7. PubMed ID: 9863591
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.
    Wu J; Kong M; Bi Q
    J Neurooncol; 2015 Nov; 125(2):439-41. PubMed ID: 26342709
    [No Abstract]   [Full Text] [Related]  

  • 28. Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
    Evans DG; Wallace AJ; Hartley C; Freeman SR; Lloyd SK; Thomas O; Axon P; Hammerbeck-Ward CL; Pathmanaban O; Rutherford SA; Kellett M; Laitt R; King AT; Bischetsrieder J; Blakeley J; Smith MJ
    Laryngoscope; 2019 Apr; 129(4):967-973. PubMed ID: 30325044
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
    Piotrowski A; Koczkowska M; Poplawski AB; Bartoszewski R; Króliczewski J; Mieczkowska A; Gomes A; Crowley MR; Crossman DK; Chen Y; Lao P; Serra E; Llach MC; Castellanos E; Messiaen LM
    Hum Mutat; 2022 Jan; 43(1):74-84. PubMed ID: 34747535
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
    Mohyuddin A; Neary WJ; Wallace A; Wu CL; Purcell S; Reid H; Ramsden RT; Read A; Black G; Evans DG
    J Med Genet; 2002 May; 39(5):315-22. PubMed ID: 12011146
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
    Piotrowski A; Xie J; Liu YF; Poplawski AB; Gomes AR; Madanecki P; Fu C; Crowley MR; Crossman DK; Armstrong L; Babovic-Vuksanovic D; Bergner A; Blakeley JO; Blumenthal AL; Daniels MS; Feit H; Gardner K; Hurst S; Kobelka C; Lee C; Nagy R; Rauen KA; Slopis JM; Suwannarat P; Westman JA; Zanko A; Korf BR; Messiaen LM
    Nat Genet; 2014 Feb; 46(2):182-7. PubMed ID: 24362817
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis.
    Halliday D; Emmanouil B; Evans DGR
    Clin Genet; 2023 May; 103(5):540-552. PubMed ID: 36762955
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis.
    Farschtschi SC; Kluwe L; Schön G; Friedrich RE; Matschke J; Glatzel M; Weis J; Hagel C; Mautner VF
    Brain Pathol; 2020 Mar; 30(2):386-391. PubMed ID: 31424590
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
    Deng F; Evans DG; Smith MJ
    Hum Mutat; 2022 Jul; 43(7):919-927. PubMed ID: 35391499
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.
    Sestini R; Bacci C; Provenzano A; Genuardi M; Papi L
    Hum Mutat; 2008 Feb; 29(2):227-31. PubMed ID: 18072270
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.
    Patil S; Perry A; Maccollin M; Dong S; Betensky RA; Yeh TH; Gutmann DH; Stemmer-Rachamimov AO
    Brain Pathol; 2008 Oct; 18(4):517-9. PubMed ID: 18422762
    [TBL] [Abstract][Full Text] [Related]  

  • 37. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
    Rousseau G; Noguchi T; Bourdon V; Sobol H; Olschwang S
    BMC Neurol; 2011 Jan; 11():9. PubMed ID: 21255467
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.
    Irving RM; Moffat DA; Hardy DG; Barton DE; Xuereb JH; Maher ER
    Hum Mol Genet; 1994 Feb; 3(2):347-50. PubMed ID: 8004107
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Pain correlates with germline mutation in schwannomatosis.
    Jordan JT; Smith MJ; Walker JA; Erdin S; Talkowski ME; Merker VL; Ramesh V; Cai W; Harris GJ; Bredella MA; Seijo M; Suuberg A; Gusella JF; Plotkin SR
    Medicine (Baltimore); 2018 Feb; 97(5):e9717. PubMed ID: 29384852
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
    Plotkin SR; Messiaen L; Legius E; Pancza P; Avery RA; Blakeley JO; Babovic-Vuksanovic D; Ferner R; Fisher MJ; Friedman JM; Giovannini M; Gutmann DH; Hanemann CO; Kalamarides M; Kehrer-Sawatzki H; Korf BR; Mautner VF; MacCollin M; Papi L; Rauen KA; Riccardi V; Schorry E; Smith MJ; Stemmer-Rachamimov A; Stevenson DA; Ullrich NJ; Viskochil D; Wimmer K; Yohay K; ; Huson SM; Wolkenstein P; Evans DG
    Genet Med; 2022 Sep; 24(9):1967-1977. PubMed ID: 35674741
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.